Epidermolysis bullosa

Last reviewed: 1 Sep 2023
Last updated: 26 Sep 2023



History and exam

Key diagnostic factors

  • positive family history of epidermolysis bullosa (EB)
  • mechanical fragility of the skin
  • recurrent blisters and erosions
  • poorly healing wounds
  • onset of cutaneous signs at birth or early infancy
  • resolution of blistering within the first 1-2 years of life
  • generalized or localized distribution of skin involvement
  • combination of milia, scarring, and dystrophic nails
  • absence of milia, scarring, and dystrophic nails
  • exuberant granulation tissue
  • herpetiform blistering
  • pseudosyndactyly
  • enamel hypoplasia
  • reticulate hyperpigmentation
  • muscular dystrophy
  • tracheolaryngeal stenosis or stricture
  • severe upper airway disease
  • onset in mid or late childhood
  • inverse (intertriginous), acral, or centripetal distribution of skin involvement
  • severe cardiomyopathy
More key diagnostic factors

Risk factors

  • Family history of EB
More risk factors

Diagnostic investigations

1st investigations to order

  • immunofluorescence antigenic mapping
  • DNA mutational analysis
  • transmission electron microscopy
More 1st investigations to order

Treatment algorithm


suspected tracheolaryngeal stenosis, stricture, or obstruction

suspected systemic infection


EBS, JEB, DEB, Kindler EB



Ajoy Bardhan, BSc, MBBS, MRCP

Clinical Lecturer in Dermatology

Honorary Consultant Dermatologist

Birmingham Medical School

University of Birmingham

University Hospitals Birmingham NHS Foundation Trust




AB has previously given a sponsored lecture titled Skin Microbiome 101 at a "Beauty of the Skin" Educational event sponsored by La Roche Posay, is an author of one or more references cited in this topic, and has also attended a non-promotional educational lecture program funded by Amryt Pharmaceuticals.


Dr Ajoy Bardhan would like to gratefully acknowledge Professor Jo-David Fine, the previous contributor to this topic.


JDF is an author of a number of references cited in this topic.

Peer reviewers

Helmut Hintner, MD

Professor and Chair

Department of Dermatology

Paracelsus Private Medical School




HH is an author of a reference cited in this topic.

Nanette Silverberg, MD

Clinical Professor of Dermatology

Columbia University College of Physicians and Surgeons

New York City



NS declares that she has no competing interests.

  • Epidermolysis bullosa images
  • Differentials

    • Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma)
    • Congenital porphyrias
    • Cutaneous absence of skin (aplasia cutis)
    More Differentials
  • Guidelines

    • Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility
    More Guidelines
  • padlock-lockedLog in or subscribe to access all of BMJ Best Practice

Use of this content is subject to our disclaimer